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ASB10

Synonyms
GLC1F
External resources
Summary
The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
11
Likely pathogenic
2
VUS
8,955
Likely benign
15,066
Benign
114

Patient phenotypes

Proportions of phenotypes among 12 patients carrying pathogenic or likely pathogenic variants on ASB10 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.3%
Abnormality of head or neck
16.7%
Abnormality of the ear
16.7%
Abnormality of the eye
16.7%
Abnormality of the integument
16.7%
Abnormality of limbs
8.3%
Abnormality of the cardiovascular system
8.3%
Abnormality of the musculoskeletal system
8.3%
Growth abnormality
8.3%
Neoplasm
8.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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